The Undiagnosed Disease Program was established in 2008 by Dr. Elias Zerhouni with a little bit of money from the Office of Rare Diseases. In its first 11 years, researchers reviewed more than 4,000 medical records and saw over 1,200 patients. From 2019 to 2022, researchers have seen just as many, and the seeds for global expansion are taking root. Yet entrenched barriers to rare disease treatments remain. William Gahl of the NIH Undiagnosed Diseases Network explains. [Transcript | Video]
5 takeaways:
➀ There may be many more than the 7,000 rare diseases that are officially recognized. William Gahl, Director of the NIH Undiagnosed Diseases Network, Researchers estimated that there are 23,000 human genes, and each could theoretically be associated with one or more diseases. The full range of potential complications is not likely, Gahl says, because some of the mutations aren’t compatible with human life.
➁ Saving lives is just part of the rare disease odyssey. When researchers quantify success, there must be a balance between how many lives were saved, how many patients may have been missed, and how many support systems were established. Gahl said that practically every patient in the Undiagnosed Diseases program communicated an enormous benefit, even if a life was lost. “And, that benefit is having a community, having a diagnosis, not being suspected by their colleagues and their friends and their family of making it up, et cetera,” Gahl said.
➂ The Network is building momentum. Gahl said researchers have been able to identify at least 24 new disease gene associations for conditions that weren’t previously known and were discovered because patients came to the NIH for the Undiagnosed Disease Program. There’s an additional list of patients who came to other Undiagnosed Disease Network Centers around the country.
➃ The research has led to astonishing treatment successes. Gahl shared the story of a 20-year-old patient with dystonia who couldn’t speak, write or walk, and spent most days curled in the fetal position. Researchers discovered she had a mutation in her KMT2B gene and suspected that deep brain stimulation would help. It eventually allowed the patient to walk. Those cases are incredibly rewarding for scientists. “We recognize that even a small increment in activities of daily living makes an enormous impact on a family and an individual with that impairment.”
➄ Global cooperation is needed to expand research gains. NIH is taking the first step toward making data readily available by forming the Undiagnosed Diseases International website. The portal outlines and encourages data-sharing policies, and the network has launched a diagnostic working group as a forum for investigators to provide information and consultations to centers around the world, especially in developing nations.
This program was sponsored by Fondation Ipsen. NPF is solely responsible for the content.